immunodeficiency 84

A primary immunodeficiency disease that is characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development and that has_material_basis_in heterozygous mutation in the IKZF3 gene on

A primary immunodeficiency disease that is characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development and that has_material_basis_in heterozygous mutation in the IKZF3 gene on chromosome 17q12-q21.

Signs and symptoms

• Decreased total B cell count
• Recurrent bacterial infections
• B-cell lymphoma
• Persistent EBV viremia
• Perianal abscess
• Splenomegaly